Mutagenetix > Incidental Mutation

Incidental Mutation 'R0400:Maco1'

38116

Institutional Source

Beutler Lab

Gene Symbol

Maco1

Ensembl Gene

ENSMUSG00000028826

Gene Name

macoilin 1

Synonyms

Tmem57, 9230118A01Rik, 1110007C24Rik, C61

MMRRC Submission

038605-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.637) question?

Stock #

R0400 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134530070-134580656 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134555427 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 349 (K349E)

Ref Sequence

ENSEMBL: ENSMUSP00000030628 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030628] [ENSMUST00000137707] [ENSMUST00000148595]

AlphaFold

Q7TQE6

Predicted Effect

probably benign
Transcript: ENSMUST00000030628
AA Change: K349E

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000030628
Gene: ENSMUSG00000028826
AA Change: K349E

Domain	Start	End	E-Value	Type
Pfam:Macoilin	2	662	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137707

SMART Domains

Protein: ENSMUSP00000124477
Gene: ENSMUSG00000028826

Domain	Start	End	E-Value	Type
Pfam:Macoilin	2	157	2.1e-112	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148595

SMART Domains

Protein: ENSMUSP00000125440
Gene: ENSMUSG00000028826

Domain	Start	End	E-Value	Type
Pfam:Macoilin	2	78	7e-48	PFAM

Meta Mutation Damage Score

0.0720

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.8%

Validation Efficiency

97% (76/78)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	T	A	11: 30,376,360 (GRCm39)	H169L	probably benign	Het
9130230L23Rik	T	C	5: 66,147,699 (GRCm39)	D28G	unknown	Het
Abca12	T	A	1: 71,298,935 (GRCm39)		probably benign	Het
Acsl5	T	C	19: 55,282,143 (GRCm39)	V573A	probably damaging	Het
Agap1	A	G	1: 89,770,972 (GRCm39)		probably benign	Het
Arid2	A	G	15: 96,254,806 (GRCm39)		probably benign	Het
B430305J03Rik	T	A	3: 61,271,556 (GRCm39)		probably benign	Het
Brsk2	T	C	7: 141,552,290 (GRCm39)	L584P	probably damaging	Het
C2cd4c	A	G	10: 79,449,043 (GRCm39)	Y35H	probably damaging	Het
Cacul1	A	G	19: 60,551,591 (GRCm39)		probably benign	Het
Cers3	T	C	7: 66,414,078 (GRCm39)	V88A	probably benign	Het
Cnnm1	A	T	19: 43,456,803 (GRCm39)	H614L	probably damaging	Het
Col1a1	T	A	11: 94,832,195 (GRCm39)		probably benign	Het
Cyp1b1	T	A	17: 80,021,016 (GRCm39)	D242V	probably damaging	Het
Cyp4a31	T	C	4: 115,420,915 (GRCm39)	M1T	probably null	Het
Dbn1	C	T	13: 55,622,729 (GRCm39)	E585K	probably damaging	Het
Dclk2	A	T	3: 86,721,054 (GRCm39)		probably null	Het
Dnah17	A	G	11: 117,972,904 (GRCm39)	S2010P	probably damaging	Het
Dram2	T	C	3: 106,480,934 (GRCm39)	L246P	probably damaging	Het
Dus2	A	T	8: 106,775,309 (GRCm39)	T279S	probably benign	Het
Epn2	T	C	11: 61,423,522 (GRCm39)		probably null	Het
Esco2	C	A	14: 66,069,155 (GRCm39)	V52F	possibly damaging	Het
Fbp1	T	A	13: 63,012,882 (GRCm39)	T104S	probably benign	Het
Foxj2	A	T	6: 122,810,767 (GRCm39)	Q249L	possibly damaging	Het
Galnt7	T	C	8: 58,037,023 (GRCm39)	Y122C	probably damaging	Het
Gimd1	T	C	3: 132,340,588 (GRCm39)	Y35H	probably benign	Het
Gipc2	A	G	3: 151,871,305 (GRCm39)	F74L	probably damaging	Het
Glt1d1	T	A	5: 127,734,139 (GRCm39)		probably benign	Het
Hmcn2	A	G	2: 31,290,141 (GRCm39)	T2325A	probably damaging	Het
Iffo1	A	G	6: 125,130,434 (GRCm39)	K471R	probably damaging	Het
Ireb2	G	A	9: 54,803,782 (GRCm39)	R491H	probably benign	Het
Isg20	A	G	7: 78,566,473 (GRCm39)	N141D	possibly damaging	Het
Kmt5c	G	A	7: 4,749,243 (GRCm39)	R100H	probably benign	Het
Lrp1b	T	C	2: 40,640,926 (GRCm39)	D3506G	probably benign	Het
Lrrn4	A	C	2: 132,719,940 (GRCm39)	F287V	probably benign	Het
Mmrn1	A	C	6: 60,954,099 (GRCm39)	K793N	probably benign	Het
Muc16	A	G	9: 18,421,830 (GRCm39)	V8227A	possibly damaging	Het
Myh2	C	T	11: 67,083,424 (GRCm39)		probably benign	Het
Nalcn	T	A	14: 123,528,372 (GRCm39)		probably benign	Het
Nfia	T	C	4: 97,951,373 (GRCm39)	V400A	probably damaging	Het
Nxph4	T	A	10: 127,362,127 (GRCm39)	T255S	possibly damaging	Het
Olfm5	G	A	7: 103,803,386 (GRCm39)	T359I	probably damaging	Het
Or1e33	T	C	11: 73,738,867 (GRCm39)	Y28C	probably benign	Het
Or5t18	A	G	2: 86,636,995 (GRCm39)	M116T	probably damaging	Het
Or8b44	A	G	9: 38,410,207 (GRCm39)	M81V	possibly damaging	Het
Or8g21	G	T	9: 38,906,494 (GRCm39)	P79Q	probably damaging	Het
Pak5	T	C	2: 135,939,499 (GRCm39)	I545M	possibly damaging	Het
Pcdhb15	T	C	18: 37,608,948 (GRCm39)	F727L	probably benign	Het
Pds5b	T	A	5: 150,646,818 (GRCm39)	N202K	possibly damaging	Het
Phlpp1	T	A	1: 106,320,664 (GRCm39)	I1553N	probably benign	Het
Pink1	T	C	4: 138,045,229 (GRCm39)	T282A	probably damaging	Het
Prdm2	A	G	4: 142,838,240 (GRCm39)	F1706S	probably benign	Het
Pycr1	G	A	11: 120,532,352 (GRCm39)		probably benign	Het
Rigi	A	G	4: 40,235,257 (GRCm39)	Y78H	probably benign	Het
Skint9	A	G	4: 112,271,198 (GRCm39)	S71P	probably damaging	Het
Smad1	A	G	8: 80,098,399 (GRCm39)		probably benign	Het
Snapc5	A	T	9: 64,087,789 (GRCm39)	E33D	probably damaging	Het
Snrnp40	T	C	4: 130,256,443 (GRCm39)	L56P	probably damaging	Het
Stab2	A	C	10: 86,708,474 (GRCm39)	I1697S	probably damaging	Het
Tfap2a	G	T	13: 40,870,888 (GRCm39)		probably benign	Het
Tph2	A	G	10: 114,916,025 (GRCm39)		probably benign	Het
Triml1	A	G	8: 43,594,077 (GRCm39)	V118A	probably benign	Het
Ttbk2	T	A	2: 120,580,723 (GRCm39)	T538S	probably benign	Het
Ttn	A	G	2: 76,545,616 (GRCm39)	V32569A	possibly damaging	Het
U2af1	T	A	17: 31,867,166 (GRCm39)	Y158F	probably benign	Het
Usp7	A	T	16: 8,534,496 (GRCm39)		probably benign	Het
Vdr	A	G	15: 97,767,232 (GRCm39)	S179P	probably benign	Het
Vps13d	A	C	4: 144,792,397 (GRCm39)	S663A	probably benign	Het
Wdr62	T	A	7: 29,940,887 (GRCm39)	T844S	possibly damaging	Het
Wipi1	C	T	11: 109,467,956 (GRCm39)	R407Q	probably damaging	Het
Zbtb43	A	G	2: 33,343,909 (GRCm39)	C439R	probably damaging	Het
Zfp507	T	A	7: 35,491,171 (GRCm39)	H704L	probably damaging	Het
Zzef1	G	A	11: 72,786,068 (GRCm39)	R2080K	probably damaging	Het

Other mutations in Maco1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00793:Maco1	APN	4	134,555,517 (GRCm39)	missense	probably damaging	0.96
IGL01062:Maco1	APN	4	134,560,608 (GRCm39)	missense	probably damaging	0.97
IGL02249:Maco1	APN	4	134,555,623 (GRCm39)	missense	possibly damaging	0.50
IGL02850:Maco1	APN	4	134,555,697 (GRCm39)	missense	probably benign	0.12
subtle	UTSW	4	134,555,610 (GRCm39)	missense	probably damaging	1.00
R0548:Maco1	UTSW	4	134,533,971 (GRCm39)	missense	probably damaging	1.00
R0589:Maco1	UTSW	4	134,555,528 (GRCm39)	missense	probably benign	0.30
R1536:Maco1	UTSW	4	134,531,818 (GRCm39)	missense	probably damaging	1.00
R2063:Maco1	UTSW	4	134,555,590 (GRCm39)	missense	possibly damaging	0.95
R2151:Maco1	UTSW	4	134,538,534 (GRCm39)	missense	probably benign	0.00
R2509:Maco1	UTSW	4	134,531,699 (GRCm39)	missense	probably damaging	1.00
R2510:Maco1	UTSW	4	134,531,699 (GRCm39)	missense	probably damaging	1.00
R2511:Maco1	UTSW	4	134,531,699 (GRCm39)	missense	probably damaging	1.00
R3806:Maco1	UTSW	4	134,557,891 (GRCm39)	missense	probably benign	0.00
R3946:Maco1	UTSW	4	134,531,792 (GRCm39)	missense	probably damaging	1.00
R4994:Maco1	UTSW	4	134,555,610 (GRCm39)	missense	probably damaging	1.00
R4999:Maco1	UTSW	4	134,555,444 (GRCm39)	missense	probably benign	0.23
R5169:Maco1	UTSW	4	134,555,774 (GRCm39)	missense	probably benign	0.23
R5310:Maco1	UTSW	4	134,564,330 (GRCm39)	intron	probably benign
R5443:Maco1	UTSW	4	134,560,619 (GRCm39)	nonsense	probably null
R5554:Maco1	UTSW	4	134,555,445 (GRCm39)	missense	probably benign
R5712:Maco1	UTSW	4	134,555,369 (GRCm39)	missense	probably benign	0.06
R6627:Maco1	UTSW	4	134,563,654 (GRCm39)	missense	probably damaging	0.98
R7100:Maco1	UTSW	4	134,533,971 (GRCm39)	missense	probably damaging	1.00
R7448:Maco1	UTSW	4	134,555,590 (GRCm39)	missense	possibly damaging	0.95
R8059:Maco1	UTSW	4	134,555,359 (GRCm39)	nonsense	probably null
R8300:Maco1	UTSW	4	134,555,762 (GRCm39)	missense	probably benign
R9246:Maco1	UTSW	4	134,565,242 (GRCm39)	missense	possibly damaging	0.50
R9786:Maco1	UTSW	4	134,557,993 (GRCm39)	nonsense	probably null
X0062:Maco1	UTSW	4	134,563,658 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCACCGAAGTGTTCCTTTTGGAGTC -3'
(R):5'- GATCCTTATACACCACAACGGAGGC -3'

Sequencing Primer
(F):5'- TTTTGGAGTCACCTCAAGAGGAAG -3'
(R):5'- ACGTTGCCAGAGATAGAATATCG -3'

Posted On

2013-05-23